Ring 14 chromosome

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Ring 14 chromosome. The mutations alter the conformation of the chromosome from linear to circular. Fully referenced neurology checklist.

Genetics

  • The mutations alter the conformation of the chromosome from linear to circular

Defining features

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Dysmorphic features

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Ocular features

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Systemic features

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General neurological features

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Epilepsy features

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Focal seizure types

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Other seizure types

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Electroencephalogram (EEG): features

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Genetic tests

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Other assessments

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Anti-epileptic drugs (AEDs)

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Other managements

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References

  1. Kamnasaran D, Cox DW. Current status of human chromosome 14. J Med Genet 2002; 39:81-90.
  2. Rinaldi B, Vaisfeld A, Amarri S, et al. Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force. Orphanet J Rare Dis 2017; 12:69.
  3. Giovannini S, Marangio L, Fusco C, et al. Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients. Epilepsia 2013; 54:2204-2213.
  4. Vaisfeld A, Spartano S, Gobbi G, Vezzani A, Neri G. Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma. Epilepsia 2021; 62:25-40. 
  5. Specchio N, Trivisano M, Serino D, et al. Epilepsy in ring 14 chromosome syndrome. Epilepsy Behav 2012; 25:585-592.

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